Linked Data
ClinVar Variation Id:
216550
ClinVar RCV Id:
RCV000196909
RCV000290713
RCV000382756
RCV001095174
RCV001509304
RCV002227458
RCV004020470
dbSNP Id:
rs369894731
ExAC:
7:30671106 G / A
gnomAD v2:
7-30671106-G-A
gnomAD v3:
7-30631490-G-A
gnomAD v4:
7-30631490-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631490G>A , CM000669.2:g.30631490G>A | GRCh38 |
| NC_000007.13:g.30671106G>A , CM000669.1:g.30671106G>A | GRCh37 |
| NC_000007.12:g.30637631G>A | NCBI36 |
| NG_007942.1:g.41926G>A , LRG_243:g.41926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1852G>A MANE Select | ENSP00000373918.3:p.Val618Ile | |
| ENST00000444666.6:c.*273G>A | ENSP00000415447.2:n.*273G>A | |
| ENST00000465748.2:n.1333G>A | ||
| ENST00000470392.2:n.4720G>A | ||
| ENST00000485784.2:n.4709G>A | ||
| ENST00000496643.2:n.2947G>A | ||
| ENST00000674616.1:c.*1566G>A | ENSP00000502408.1:n.*1566G>A | |
| ENST00000674643.1:c.*952G>A | ENSP00000501636.1:n.*952G>A | |
| ENST00000674737.1:c.*1190G>A | ENSP00000502464.1:n.*1190G>A | |
| ENST00000674807.1:c.*125G>A | ENSP00000502814.1:n.*125G>A | |
| ENST00000674815.1:c.1483G>A | ENSP00000502799.1:p.Val495Ile | |
| ENST00000674851.1:c.1483G>A | ENSP00000502451.1:p.Val495Ile | |
| ENST00000674969.1:n.3725G>A | ||
| ENST00000675051.1:c.1651G>A | ENSP00000502296.1:p.Val551Ile | |
| ENST00000675529.1:c.*1722G>A | ENSP00000501655.1:n.*1722G>A | |
| ENST00000675587.1:n.2684G>A | ||
| ENST00000675651.1:c.1852G>A | ENSP00000502513.1:p.Val618Ile | |
| ENST00000675693.1:c.1684G>A | ENSP00000502174.1:p.Val562Ile | |
| ENST00000675810.1:c.1750G>A | ENSP00000502743.1:p.Val584Ile | |
| ENST00000675859.1:c.*83-757G>A | ENSP00000502033.1:n.*83-757G>A | |
| ENST00000675863.1:n.1860G>A | ||
| ENST00000675886.1:n.7892G>A | ||
| ENST00000676088.1:c.*1794G>A | ENSP00000501884.1:n.*1794G>A | |
| ENST00000676140.1:c.*797G>A | ENSP00000502571.1:n.*797G>A | |
| ENST00000676164.1:c.*1303G>A | ENSP00000501986.1:n.*1303G>A | |
| ENST00000676210.1:c.*1141G>A | ENSP00000502373.1:n.*1141G>A | |
| ENST00000676259.1:c.*1284G>A | ENSP00000501980.1:n.*1284G>A | |
| ENST00000676403.1:c.1810-757G>A | ENSP00000502681.1:n.1810-757G>A | |
| ENST00000389266.7:c.1852G>A | ENSP00000373918.3:p.Val618Ile | |
| ENST00000444666.5:c.507G>A | ENSP00000415447.1:n.507G>A | |
| ENST00000465748.1:n.223G>A | ||
| ENST00000485784.1:n.342G>A | ||
| NM_001316772.1:c.1690G>A | NP_001303701.1:p.Val564Ile | |
| NM_002047.2:c.1852G>A , LRG_243t1:c.1852G>A | NP_002038.2:p.Val618Ile | |
| NM_002047.3:c.1852G>A | NP_002038.2:p.Val618Ile | |
| XM_006715686.1:c.1483G>A | XP_006715749.1:p.Val495Ile | |
| XM_006715686.2:c.1483G>A | XP_006715749.1:p.Val495Ile | |
| NM_002047.4:c.1852G>A MANE Select | NP_002038.2:p.Val618Ile |